对男性乳腺癌的遗传倾向
Markéta Janatová1,2, Marianna Borecká3,4, Petra Zemánková3,4,5
1CZECANCA consortium, Czech Republic. mjana@lf1.cuni.cz.
Folia biologica
|January 31, 2025
概括
在男性乳腺癌 (mBC) 患者的基因测试显示,BRCA2,BRCA1和PALB2中的致病变体 (PV) 显著增加了mBC风险. 这支持通用基因查,用于早期检测和个性化治疗.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 癌症的倾向 癌症的倾向
背景情况:
- 男性乳腺癌 (mBC) 是罕见的,占全球所有乳腺癌的<1%.
- 遗传因素,特别是癌症倾向基因中的生殖系致病变体 (PVs),对于mBC风险至关重要.
- 大约15%的mBC病例与生殖线PVs有关.
研究的目的:
- 调查生殖系致病变体 (PV) 在男性乳腺癌 (mBC) 患者的患病率和影响.
- 在捷克队列中确定与增加mBC风险相关的特定基因.
- 为了评估mBC患者的临床特征与PVs.
主要方法:
- 使用CZECANCA面板 (226个基因) 通过下一代测序进行生殖系遗传测试.
- 对248名捷克mBC患者和3626名男性对照进行了分析.
- 统计分析以确定PV和mBC风险之间的关联 (异常比率).
主要成果:
- 18.5%的mBC患者携带了已确定的倾向基因中的PVs,主要是BRCA2 (34/46),BRCA1 (7/46) 和PALB2 (5/46).
- 在BRCA2,BRCA1和PALB2中的PV显著增加了mBC风险 (ORs分别为44.04,5.82,8.26).
- CHEK2中的PV也与增加的mBC风险 (OR = 4.98) 有关;携带者年轻,瘤更具侵略性.
结论:
- BRCA2 是男性乳腺癌 (mBC) 倾向的一个关键基因.
- 像CHEK2这样的额外基因可能会导致mBC风险,需要进一步调查.
- 为改善早期检测和量身定制疗法,对所有mBC患者进行通用基因检测是合理的.
相关概念视频
Cancer Prevention
6.0K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.0K
X-linked Traits
53.1K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
53.1K
Sex-linked Disorders
100.0K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
100.0K
Cancers Originate from Somatic Mutations in a Single Cell
11.5K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
11.5K
Cancer-Critical Genes I: Proto-oncogenes
8.7K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.7K
Pedigree Analysis
83.8K
Overview
83.8K


